Disease #01901 (MGCPH (macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH)), OMIM:248000)

Official abbreviation MGCPH
Name macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH)
OMIM ID 248000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene TBC1D7
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00086977 - van Geel/Gille 2016, submitted - - - Netherlands - - - - - MGCPH macrocephaly PTCH1 PTCH1 1 2 Michel van Geel
00087011 - van Geel/Gille 2016, submitted - - - Netherlands - - - - - MGCPH macrocephaly, keratocyst PTCH1 PTCH1 1 1 Michel van Geel
00087052 - van Geel/Gille 2016, submitted - - - Netherlands - - - - - MGCPH keratocysts, macrocrany, mental retardation PTCH1 PTCH1 1 1 Michel van Geel
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